Affinity proteomics within rare diseases: a BIO‐NMD study for blood biomarkers of muscular dystrophies

B Ayoglu, A Chaouch, H Lochmüller… - EMBO molecular …, 2014 - embopress.org
Despite the recent progress in the broad‐scaled analysis of proteins in body fluids, there is
still a lack in protein profiling approaches for biomarkers of rare diseases. Scarcity of …

Large-scale serum protein biomarker discovery in Duchenne muscular dystrophy

Y Hathout, E Brody, PR Clemens… - Proceedings of the …, 2015 - National Acad Sciences
Serum biomarkers in Duchenne muscular dystrophy (DMD) may provide deeper insights
into disease pathogenesis, suggest new therapeutic approaches, serve as acute read-outs …

Mass spectrometry-based identification of muscle-associated and muscle-derived proteomic biomarkers of dystrophinopathies

P Dowling, A Holland… - Journal of Neuromuscular …, 2014 - content.iospress.com
The optimization of large-scale screening procedures of pathological specimens by
genomic, proteomic and metabolic methods has drastically increased the bioanalytical …

Label-free mass spectrometric analysis reveals complex changes in the brain proteome from the mdx-4cv mouse model of Duchenne muscular dystrophy

S Murphy, M Zweyer, M Henry, P Meleady… - Clinical Proteomics, 2015 - Springer
Background X-linked muscular dystrophy is a primary disease of the neuromuscular system.
Primary abnormalities in the Dmd gene result in the absence of the full-length isoform of the …

Report of a TREAT-NMD/world duchenne organisation meeting on dystrophin quantification methodology

A Aartsma-Rus, J Morgan, P Lonkar, H Neubert… - 2019 - journals.sagepub.com
Representatives of academia, patient organisations, industry and the United States Food
and Drug Administration attended a workshop on dystrophin quantification methodology …

Mass spectrometry‐based protein analysis to unravel the tissue pathophysiology in Duchenne muscular dystrophy

SJ Carr, RP Zahedi, H Lochmüller… - PROTEOMICS–Clinical …, 2018 - Wiley Online Library
Duchenne muscular dystrophy (DMD) is a genetic muscle wasting condition with limited
treatment options available and is caused by the lack of dystrophin. However …

Fibronectin is a serum biomarker for D uchenne muscular dystrophy

F Cynthia Martin, M Hiller, P Spitali… - Proteomics–Clinical …, 2014 - Wiley Online Library
Purpose To identify and validate serum biomarkers for the progression of D uchenne
muscular dystrophy (DMD) using a MS‐based bottom‐up pipeline. Experimental design We …

Comparative mass spectrometric and immunoassay‐based proteome analysis in serum of Duchenne muscular dystrophy patients

S Oonk, P Spitali, M Hiller, L Switzar… - PROTEOMICS …, 2016 - Wiley Online Library
Purpose Duchenne muscular dystrophy (DMD) is a severe and fatal neuromuscular disease.
With the current developments on novel therapeutic strategies for DMD, the need to carefully …

Simultaneous Pathoproteomic Evaluation of the Dystrophin-Glycoprotein Complex and Secondary Changes in the mdx-4cv Mouse Model of Duchenne Muscular …

S Murphy, M Henry, P Meleady, M Zweyer… - Biology, 2015 - mdpi.com
In skeletal muscle, the dystrophin-glycoprotein complex forms a membrane-associated
assembly of relatively low abundance, making its detailed proteomic characterization in …

Blood-derived biomarkers correlate with clinical progression in Duchenne muscular dystrophy

K Strandberg, B Ayoglu, A Roos… - Journal of …, 2020 - content.iospress.com
Background: Duchenne Muscular Dystrophy is a severe, incurable disorder caused by
mutations in the dystrophin gene. The disease is characterized by decreased muscle …